Health & Medicine

California group helps people with rare diseases aim for new heights

A local nonprofit focused on helping people with rare diseases achieve extraordinary physical feats is gearing up for a trek to the top of White Mountain, the third highest peak in California.

Sacramento resident Sean Baumstark, 37, and his team of seven others will begin the hike Friday. Baumstark, who was diagnosed with a rare muscular condition known as Friedreich’s Ataxia in 2007, founded the nonprofit organization de:terminence — a combination of the words determination and resilience.

Baumstark compares de:terminence to the Make-A-Wish Foundation. But instead of arranging trips to Disneyland, his team aims to improve the lives of individuals affected by rare diseases through physical achievements.

“People dream about climbing Mount Whitney or … participating in a marathon, but they don’t have legs or they don’t have the physical ability to do (so),” he said. “An organization like mine comes in and we help them get the equipment they need, whether that’s an adaptive wheelchair or an adaptive bike. We provide a team of people to run with them, to push them, to carry them, do whatever we can.”

Baumstark was diagnosed with Friedreich’s Ataxia in 2007. The disease causes progressive damage to the nervous system and causes people to use a wheelchair to get around.

The year after Baumstark was diagnosed with Friedreich’s Ataxia, he ran a half marathon in the California International Marathon, biked from Sacramento to Las Vegas and ran with the Olympic torch leading up to the 2008 Beijing Summer Olympics.

He also participated in the coast-to-coast Race Across America relay with a team including his friend Kyle Bryant, who also has Friedrich’s Ataxia. Their participation in the race was the subject of the 2015 documentary The Ataxian, which received much critical acclaim.

Today, about 11 years after his diagnosis, Baumstark is still upright and “fairly independent.”

“I was told by a doctor that someday I wouldn’t be able to walk on my own or be able to run,” Baumstark said. “I decided to begin doing things in the moment while I still had the ability. I began riding a bicycle more often, I began hiking up some crazy mountains and I began being a part of some crazy adventures.”

A team from de:terminence attempted to climb Mount Whitney and White Mountain in 2008 and 2009, but those attempts were not successful. This time, the team is more organized.

Team de:terminence eventually plans to summit all 14 of California’s peaks that top 14,000 feet in height. Friday’s hike will be the first and only trip for 2018, but next year the team plans to do three or four treks.

Joining Baumstark on the trek is 17-year-old Riley Stevens and his dad, Josh. The two flew from their home in Idaho to Sacramento on Wednesday to meet Baumstark for the first time before driving to White Mountain.

Riley’s mom, Katie Stevens, met Baumstark when she was interviewed on his podcast, Two Disabled Dudes, which he co-hosts with Bryant. Stevens is the executive director of the international nonprofit, Team Telomere, which supports parents with telomere biology disorder.

At age 11, Riley was diagnosed with aplastic anemia, a rare blood disease that often requires a bone marrow transplant. After the diagnosis, genetic testing revealed Riley has very short telomeres, the sequence at the end of each chromosome. Telomeres shorten with age, causing tissue degeneration.

“He was dying,” Stevens said, explaining that although her son was able to do “safe” physical activities like cross country and track, he always came in last. Even a walk around the block left him breathless.

“The reason he couldn’t ride his bike or ski or wrestle (or) play with other kids is because they didn’t realize if they pushed him it could potentially kill him because he didn’t have any platelets to stop bleeding should something happen to him,” she said. “He could’ve hemorrhaged or bled out very easily.”

Then, three years ago, Riley received a bone marrow transplant which corrected his bone marrow failure. He now says his health is normal.

The transplant doesn’t correct Riley’s underlying genetic complications and shortened telomeres, but, like Baumstark, he’s taking full advantage of his physical capabilities.

“They don’t take it for granted at all, neither of them do,” Katie Stevens said. “They’re both beautiful people because they want to give back to their community.”

A few days ago, the de:terminence Instagram account featured a photo of Riley and his dad on a hike and attached was a quote from his mom: “there were days Riley couldn’t make a walk around the block.”

“That’s true,” Riley Stevens said. “And I think it’s cool I’ve gotten to this point.”

Riley, who will be entering his last year of high school, said he’s excited for this week’s trip. If possible, he wants to participate in the organization’s future hikes.

“I like helping to gain awareness for the rare disease community and I think what Sean is doing right now is impressive and ambitious,” he said. “I would like to help him with this journey, even if it just means going to hike a mountain.”

Those interested can donate to help fund this trip or a future trip on de:terminence’s website.